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Ortner’s syndrome is rare syndrome characterised by hoarseness of voice due to recurrent laryngeal nerve involvement in cardiovascular disease.

Pentalogy of Cantrell is a rare syndrome that is characterized by varying degrees of midline wall defects and congenital cardiac anomalies. A left ventricular diverticulum (LVD) is defined as partial ectopia cordis, can be part of the pentalogy of Cantrell, and can put the patient at risk of severe complications. Early diagnosis and ligation/resection of the LVD is important to prevent complications. We report on a case of pentalogy of Cantrell, in which a LVD was diagnosed only at 2 months of age despite preceding pre- and postnatal echocardiography. We conclude that in the suspicion of pentalogy of Cantrell, either complete or incomplete, cardiac magnetic resonance imaging should be performed, when possible, to avoid the potential complication of a herniating ventricular diverticulum.

Acute esophageal necrosis (AEN) also known as “black esophagus” or necrotizing esophagitis is a rare syndrome characterized by a striking diffuse patchy or circumferential black appearance of the esophageal mucosa that preferentially affects the distal esophagus and terminates at the gastroesophageal junction. Only 88 patients over a span of 40 years have received this diagnosis, and the prevalence of this disease ranges from 0.001 to 0.2% of cases in literature. It more commonly affects men (4 : 1 ratio) in the sixth decade of life. It is associated with a high mortality rate, approaching 32%. We report a case of AEN presenting in the setting of diabetic ketoacidosis (DKA), affecting both the proximal and distal esophagus.

Alagille syndrome is a rare autosomal dominant inherited disorder with incidence of one in 100,000 live births. This syndrome with seizure as a presentation has been rarely reported in Indian studies. We present a 3-month-old infant who presented to us with seizures was found to have a dysmorphic face, jaundice, hepatomegaly, and soft systolic murmur. Infant was stabilized and remained seizure free. A detailed clinical evaluation of a common presentation may reveal a rare syndrome.

Folie a deux is a rare syndrome characterized by induction of a delusion in a susceptible person in close proximity with an individual with known delusional disorder. We report a rare case of monozygotic twins with induced delusional disorder in one of the twins. The twins had experienced childhood trauma in the form of emotional neglect and physical abuse by the father. The primary case (Twin A) was diagnosed with delusional disorder and was treated with oral antipsychotic. The secondary case (Twin B) showed resolution of symptoms after separation from twin A. The case highlights the unique presentation of induced delusional symptoms in monozygotic twins and the close association between childhood trauma and psychosis.

Spontaneous heparin induced thrombocytopenia (HIT) is a rare syndrome in which anti-heparin antibodies develop without heparin exposure. Patients with spontaneous HIT are in a hypercoagulable state, often presenting with arterial or venous thromboembolism (VTE). Prompt diagnosis is important for

Its a case report of, Goldenhar syndrome (GS), a rare syndrome with right ear microtia, atresia of the external auditory canal, nasal polyposis, pulmonary agenesis, spine abnormalities and dextrocardia. This case, has showed the involvement of nose in the form of nasal polyposis in GS, which has never been reported in the literature so far.

Fat embolism syndrome (FES) is a rare syndrome caused by embolization of fat particles into multiple organs including the brain (Cerebral Fat Embolism Syndrome), that can manifest itself in multiple ways, ranging from asymptomatic presentation to respiratory failure, neurocognitive deficits, and death. It typically manifests with petechial rash, deteriorating mental status, and progressive respiratory insufficiency, usually occurring within 24–48 h of trauma with long-bone fractures or an orthopedic surgery. We present the case of a 30-year-old otherwise healthy man with an isolated femoral and radius fracture who developed signs of cerebral fat embolism syndrome (CFES) within 8 hours of injury and prior to any operative treatment.

Gorlin syndrome is an autosomal dominant inherited condition that exhibits high penetrance and variable expressivity. The syndrome is caused by mutations in PTCH, a tumor suppressor gene that has been mapped to chromosome 9q22.3-q31. It is observed that most aggressive forms of keratocystic odontogenic tumor are the first signs of this syndrome which show a high recurrence rate due to its varied histopathological features. The other components are multiple basal cell carcinomas of the skin, intracranial calcifications and rib and vertebral anomalies. In addition, >100 minor criteria have been described with two major and one minor criteria or one major and three minor criteria necessary for confirmatory diagnosis. It is a rare syndrome having an estimated incidence of 1 in 50,000–150,000 in the general population with a 3:1 male/female gender predilection. Here, we report the case of a 14-year-old female patient diagnosed with Gorlin syndrome.

Objective To demonstrate robot-assisted hysterectomy and bilateral orchidopexy in a patient with persistent Mullerian duct syndrome (PMDS). PMDS is a relatively rare disorder of sexual development, patients have a 46, XY karyotype and normal male external genitalia, but internal Mullerian duct structures. Usually these phenotypic males have unilateral or bilateral undescended testes, bilateral fallopian tubes, a uterus, and an upper vagina draining into a prostatic utricle. Methods We present a 48-year-old gentleman that was referred to our institute as a case of primary infertility and bilateral undescended testes. Results Diagnostic laparoscopy revealed a uterus, fallopian tubes with bilateral gonads that were biopsied and showed fibrotic seminiferous tubes. Due to the probable risk of malignant transformation of the remnant Mullerian structures, we counselled the patient for robot-assisted hysterectomy, bilateral salpingectomy and bilateral orchidopexy, upon which he agreed to proceed. Conclusion Our video demonstrates this rare syndrome and shows the feasibility of performing such a procedure robotically with good results.

Jalili syndrome is a rare genetic disorder first identified by Jalili in Gaza. Amelogenesis imperfecta and cone-rode dystrophy are simultaneously seen in Jalili syndrome patients as the main and primary manifestations. Molecular analysis has revealed that theCNNM4gene is responsible for this rare syndrome. Jalili syndrome has been observed in many countries around the world, especially in the Middle East and North Africa. In the current scoping systematic review we searched electronic databases to find studies related to Jalili syndrome. In this review we summarise the reported clinical symptoms,CNNM4gene and protein structure,CNNM4mutations, attempts to reach a genotype-phenotype correlation, the functional role ofCNNM4mutations, and epidemiological aspects of Jalili syndrome. In addition, we have analysed the reported mutations in mutation effect prediction databases in order to gain a better understanding of the mutation’s outcomes.

Snapping elbow is a rare syndrome caused by dislocation of the medial head of the triceps. Simultaneous dislocation of the ulnar nerve occurs even less frequently. We report a case of ulnar nerve dislocation accompanied by dislocation of the triceps over the medial humeral epicondyle. The ulnar nerve was located in front of the medial epicondyle and did not change position with the elbow flexed or extended. At the point of insertion, the proximal end of the triceps muscle was displaced anteriorly. In this case, diagnosis by physical examination was challenging, but ultrasonography proved useful for diagnosis. During surgical treatment, partial resection of the triceps medial head was achieved, and the patient demonstrated a full recovery.

Highlights • This case is a rare presentation of C. sordellii toxic shock syndrome resulting from a Caesarian section. • This is the only obstetric case of C. sordellii to have survived. • Extreme levels of a leukocytosis and hypotension without fevers raises suspiscion for this severe infection. • Broad spectrum antibiotics, including coverage for anaerobic organisms, and surgical intervention is the standard of care. • At the moment, no early detection or antitoxins are commercially available., Introduction Clostridial toxic shock is a rare syndrome traditionally described in case studies and reviews as a uniformly fatal condition associated with post-partum and post-abortion. Clostridium sordellii was first mentioned in scientific literature as a human pathogen in 1922 when Argentinian microbiologist Alfredo Sordellii identified the organism in gangrenous wounds. Over the past century, there has been infrequent discussion and little awareness surrounding this serious condition. Information about patients who survived C. sordellii toxic shock is essentially nonexistent. Presentation of case A 31-year old post-partum female who underwent caesarian section 17 days prior, presented with abdominal pain and septic features. She underwent six operations/procedures over the next 17 days and was hospitalized for 25 days before discharge to her home with a successful outcome. Discussion This case provides insight on the process of identifying and managing complications associated with clostridial toxic shock syndrome. Out of now, 16 reported cases of C sordellii gynecologic infections in the world literature, our patient is the second patient to survive infection by this organism. More research is needed to provide clinicians with evidence-based approaches for managing these unique cases. Conclusion We present a case report of a rare toxic shock syndrome in a post-partum female caused by Clostridium sordellii. Her survival is notable among 16 patients with whom this infection now has a documented 87.5% mortality rate. Aggressive surgical measures and optimized intensive care management may have contributed to this patient’s survival.

Propofol infusion syndrome (PRIS) is a rare syndrome originally described in critically ill children undergoing long-term (> 48 h) propofol infusion at high doses (> 4 mg/kg/h). Severe metabolic acidosis, rhabdomyolysis, renal failure and fatal cardiac failure are the features. Herein, we present a case of a newborn who developed PRIS after a single bolus dose of propofol at 3.2 mg/kg/do, developing rhabdomyolysis and severe metabolic acidosis, with a successful outcome after medical therapy.

Acute esophageal necrosis (AEN) is a particularly rare syndrome with an incidence of only 0.1-0.28%, whose appearance is notable for proximal extensions of black, necrotic appearing mucosa extending proximally in the esophagus and abruptly interrupted at the gastroesophageal junction. In this case series, we explore the cases of two males: one middle-aged and one elderly, who after presenting with emesis, were found to have acute esophageal necrosis on esophagogastroduodenoscopy.

Swallow syncope is a relatively rare syndrome and caused by various foods and drinks. A 76-year-old man was admitted with frequent syncope while eating. Holter electrocardiogram revealed frequent occurrence of atrioventricular block during meals. Both atrioventricular block and sinus arrest were induced by only eating citrus fruits, citrus jelly, and acidic foods but not by other drinks and foods. These arrhythmias were suppressed after administration of atropine. No further episodes of syncope recurred after the implantation of a DDD pacemaker. This case indicated that acidic stimulation of citrus induced a vasovagal reflex via esophageal nociceptors leading to syncope.

Background: Growing teratoma syndrome is a rare syndrome that affects patients with nonseminomatous germ-cell tumors (NSGCTs). It is characterized by recurrent growing masses that appear during or after chemotherapy in the presence of normal levels of tumor markers. Histological examination is the only way to confirm the diagnosis. Case Presentation: We present the case of a 36-year-old man who developed recurrent masses after curative treatment for NSGCT of the testicle. His tumor markers were normal. The patient was cured after multiple surgical procedures. Conclusions: Close follow-up after treatment for NSGCT is very important for early detection of this syndrome, which can occur even many years after tumor onset. Normal blood makers can be misleading, and surgery remains the only curative treatment.

Introduction Hemophagocytic Lymphohistiocytosis (HLH) is a rare syndrome of immune system derangement leading to over-activation of macrophages, cytokine storm, and tissue destruction with multiple organ involvement. Its survival rate is approximately 2 months without treatment. We discuss a well-appearing 13 month old with HLH discovered in the setting of hospitalization for fever of unknown origin (FUO). Case Presentation A 13-month-old male presented with a 10-day history of persistent fever, mild cough, and 3 days of mucoid diarrhea. Initial physical exam …

The clinical aspects of leishmaniasis encompass a spectrum of signs and symptoms. These range from the nodular or ulcerative lesion seen in cutaneous leishmaniasis which, for some Leishmania species, can evolve to mucocutaneous leishmaniasis after dissemination and invasion of the mouth and upper respiratory tract. Further dissemination leads to a rare syndrome known as diffuse cutaneous leishmaniasis. The systemic and most invasive form of the disease is visceral leishmaniasis. These diseases are not only dependent on the infecting Leishmania species, but also on the immunological status of the host. This chapter will address aspects of clinical presentation of leishmaniases both in the immunocompetent and immunocompromised individuals.

Middle Aortic Syndrome is a rare vascular disorder consisting of narrowing or stenosis of the distal thoracic or abdominal aorta. It is described in the literature in the form of case studies and case series. The authors present an unusual case of Middle Aortic Syndrome attributed to Takayasu’s arteritis in a 60-year-old female who presented to the emergency department with uncontrolled hypertension. Traditional intervention involves open surgical bypass. This case study reviews the published literature on this rare syndrome and illustrates a successful alternative to open surgery through an endovascular approach.

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Wyburn-Mason syndrome (WMS) is a widely recognized neurocutaneous syndrome in which the unilateral anterior venous malformation in its complete form is associated with eye, brain, and skin involvement. The term WMS also includes the incomplete form in which the patients show unilateral anterior venous malformation as a single anomaly not associated with other districts involvement. Neurologic complications are almost constantly reported in this syndrome. The aim of this report is to describe the neurologic course of two patients affected by the complete form of this very rare syndrome offering particular remarks whether convulsive episodes or epilepsy are leading features of this disorder. Based on the experience registered in the long follow-up in the present patients and in those reported in the literature, seizures and convulsive episodes are uncommon in WMS and, when present, mainly occur in consequence of acute or chronic disruptive events of the arteriovenous malformations.

RESUMO Folie à deux, ou transtorno delirante induzido, é uma síndrome rara caracterizada por transferência de delírios de um sujeito considerado primariamente psicótico para um ou mais sujeitos considerados secundários em relação à origem do delírio. Apesar de ser um diagnóstico considerado raro, e até por isso esquecido nos tratados psiquiátricos atuais, nosso artigo descreve um caso de folie à deux entre mãe (sujeito delirante primário) e filha (paciente previamente saudável e secundariamente psicótica) que teve sucesso terapêutico e evolução muito favorável. Apesar de nosso caso ter tido evolução favorável, há relatos na literatura de desfechos trágicos como infanticídio. Além disso, nosso artigo chama atenção para alguns aspectos importantes. Primeiro, quadros de folie à deux podem ocorrer em muitas situações, e não só em confinamentos, diferentemente do que os sistemas classificatórios atuais tendem a fazer. Igualmente, não são tão raros como se supõe. Por último, os clínicos devem estar atentos a possíveis problemas psiquiátricos não reconhecidos no indivíduo considerado secundário.

Pentasomy of the x chromosome is a rare syndrome of unknown incidence and there are few reports in the scientific literature, especially in terms of dental care for patients with this syndrome. The aim of this study was to report the dental care given to an adolescent with pentasomy of the X chromosome. The patient presented a cleft palate, impacted teeth, malocclusion, high caries activity, gingivitis and multiple tooth loss due to caries. Despite the difficulties of carrying out the dental work due to involuntary movements and the initial lack of collaboration from the patient the overall dental care was completed on an outpatient basis. The therapeutic success of the treatment was strongly supported by the significant cooperation and relationship that grew up along the period of the treatment, as well as the desire to have the treatment done by both the patient and her parents. A pentassomia do cromossomo x é uma síndrome rara, de incidência desconhecida e com poucos relatos na literatura científica, especialmente no que diz respeito à atenção odontológica para pacientes portadores da mesma. O objetivo deste estudo foi relatar um caso de atenção odontológica a uma jovem com pentassomia do cromossomo x, que apresentava fenda palatina, dentes inclusos, má-oclusão, alta atividade de cárie, gengivite e múltiplas perdas dentárias devido à cárie. Apesar das dificuldades de se realizar o tratamento dentário devido aos movimentos involuntários e a não colaboração inicial da paciente, houve total viabilidade da atenção odontológica em âmbito ambulatorial, observando-se significativa cooperação, formação de vínculo e adesão ao tratamento pela mesma e seus responsáveis, o que gerou sucesso terapêutico.

A rare syndrome, Dyke-Davidoff-Masson Syndrome (DDMS), with a diagnostic conundrum, and the way it was solved is presented. DDMS is one among the syndromes associated with refractory epilepsy. We have come across a case of Dyke-Davidoff-Masson syndrome while investigating a case of refractory epilepsy. When cerebral hemi atrophy is associated with the radiological features of osseous hypertrophy of calvarium, hyper-pneumatisation of sinuses dilatation, DDMS is to be considered.Bangladesh J Medicine Jan 2014; 25 (1) : 31-34

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS.

Background Posterior reversible encephalopathy syndrome (PRES) is a well-recognized complication of hypertensive encephalopathy. Recently, pre-eclampsia, connective tissue disorders, and immunosuppressive drugs have been reported to be the etiologies of this rare syndrome. Methods We evaluated 9 cases of PRES whose diagnosis were confirmed based on clinical and radiologic evidence between July 2011 and December 2013 in a tertiary center, Imam Khomeini Hospital, Tehran, Iran. Results Immunosuppressive drugs, especially cyclosporine, and hypertension were the main precipitating factors. In this study, seizure was the most common clinical presentation (100%), whereas other common clinical presentations were confusion (78%), visual loss (67%), and headaches (67%). With conservative management and elimination of predisposing factor, the patients improved gradually except for 2 cases who experienced prolonged recovery period because of delayed diagnosis. Conclusions With timely diagnosis, PRES generally has a good prognosis with complete recovery. However, in missed conditions, it could be associated with catastrophic burden especially in organ transplantation after a prolonged time spending to find matched donors or in chronic immunosuppressive conditions. Thereupon, physicians should be aware of clinical and radiologic manifestations of this preventable but potentially disabling syndrome.

Joubert syndrome is a rare autosomal recessive disorder with malformations of brain stem and cerebellum, manifested by abnormal respiratory pattern, ocular abnormalities, ataxia and developmental retardation. "molar tooth sign", seen on brain magnetic resonance imaging illustrates the typical neuro-radiological appearance of this condition. In this report, we describe the familial occurrence of Joubert syndrome in two siblings with emphasis on the imaging features of this rare syndrome.

Alpha-thalassemia mental retardation syndrome is an X-linked mental retardation (MR) syndrome characterized by a recognizable facial appearance, infantile hypotonia and cryptorchidism. Although the presence of alpha-thalassemia facilitates the diagnosis, its absence does not exclude the diagnosis of this rare syndrome. We describe two siblings who presented with facial dysmorphism, MR and a four-generation pedigree that revealed an X-linked recessive inheritance pattern. Their red blood cell indices were within the normal range; however, hemoglobin H inclusions were detected following cresyl blue staining on their peripheral blood film. Mutational analysis revealed a point mutation C7156T that is predicted to have caused a premature termination within the alpha-thalassemia MR syndrome gene in both siblings. Confirmation of this mutation has facilitated the process of genetic counseling, carrier testing and prenatal diagnosis amongst female relatives in this family.

Bardet–Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic disorder, characterized by both congenital and late onset defects. From the analysis of the mutational burden in patients to the functional characterization of the BBS proteins, this syndrome has become a model for both understanding oligogenic patterns of inheritance and the biology of a particular cellular organelle: the primary cilium. Here we briefly review the genetics of BBS to then focus on the function of the BBS proteins, not only in the context of the cilium but also highlighting potential extra-ciliary roles that could be relevant to the etiology of the disorder. Finally, we provide an overview of how the study of this rare syndrome has contributed to the understanding of cilia biology and how this knowledge has informed on the cellular basis of different clinical manifestations that characterize BBS and the ciliopathies.

Key Clinical Message The Conradi–Hünermann Disease is a rare syndrome, which affects the cranial development and the anatomy of dental occlusion. After interdisciplinary treatment completion, the patient reached satisfactory facial anatomy, as well as regular occlusal relationship, attested 2 years of accompaniment.

Ellis-Van Creveld is a rare syndrome with characteristic dental and orofacial findings. Dental management of patients with Ellis-Van Creveld syndrome can be complicated by the associated skeletal and cardiac abnormalities. Here, we present the dental and orofacial findings in a patient with Ellis-Van Creveld syndrome, describe a new oral finding, and discuss the dental management considerations.

This article focuses on the associated signs and symptoms of patients with partial agenesis of the corpus callosum. The orodental manifestations of such cases have been given special weightage which will prove to be of great help to oral physician when encountered with such cases. Case details Two siblings, aged 14 and 16 years, reported with a chief complaint of severe crowding of teeth with mouth breathing habit. They were low birth-weight babies and had been born to non-consanguinous parents. The distinguishing features of these children were craniofacial abnormalities, delayed developmental milestones, mild mental retardation and abnormal gait. The nosological features and the clinical manifestations of this syndrome and the plausible autosomal recessive inheritance of this rare syndrome have been elicited. The diagnosis was based on characteristic phenotype, in particular striking craniofacial and skeletal abnormalities and neuroimaging. Conclusion It is a challenge for healthcare professionals to help these youths to maximize their potential as human beings and help them achieve a meaningful adulthood. On the other hand, diagnosing such cases can be a challenge to dentistry. A systematic protocol, if adhered, can lead to a more appropriate diagnosis. Managing such cases in a clinical setup involves a multispeciality and interdisciplinary approach.

Takotsubo cardiomyopathy or apical ballooning is a condition characterized by transitory left ventricular dysfunction, affecting commonly postmenopausal females after foregoing acute emotional or physical stress. We report a case of a 63 year old female presenting with severe dyspnea and right-sided secondary spontaneous pneumothorax, initially treated with tube thoracostomy. Despite the fact that pneumothorax resolved, shortness of breath persisted and due to ST-segment elevation and increased Troponin I levels, she was admitted to cardiac catheterization. A significant coronary stenosis was ruled out and the diagnosis of a Takotsubo cardiomyopathy was established. Electrocardiographic findings were normalized within three days and attributable to prolonged air leakage. A thoracoscopic apex resection followed by a partial parietal pleurectomy was performed. Although Takotsubo cardiomyopathy is a rare syndrome, it should always be considered as a potential cardiac complication of a pneumothorax.

Epilepsia partialis continua (EPC) is a rare syndrome of continuous focal jerking of a body part, usually localized to a distal limb, occurring over hours, days or even years. Etiology is multiple and diverse as well as the outcome is also variable. Here we report two cases of EPC admitted almost in a same period in our hospital in Khulna with different etiology and outcome. The first one, an adult diabetic patient, developed status epilepticus followed by right sided epilepsia partialis continua over a period of three days after a viral illness. He responded well with treatment. The second case, a three year old girl, progressively developed epilepsia partialis continua over a period of six months with no antecedent event. Her treatment response is not satisfactory. DOI: http://dx.doi.org/10.3329/bmjk.v47i1-2.22559 Bang Med J (Khulna) 2014; 47 : 25-28

Introduction Synovitis–acne–pustulosis–hyperostosis–osteitis (SAPHO) is an acronym for various osteoarticular and dermatological manifestations that can appear in the same patient. It is a rare syndrome, but since its awareness has increased, there have been more and more such reports in the literature. Aims The objectives of this review are to summarize the current state of knowledge on pediatric and adult-onset SAPHO syndrome, and to discuss treatment strategies that should be considered. Results The SAPHO syndrome can affect patients of any age, and its etiology is still not known. The syndrome has its cognizable radiological characteristics that are most important in making the diagnosis. There are several diagnostic criteria as well, but they need further validation. No standard treatment protocols are available and current treatment options are not evidenced-based due to the rarity of the syndrome. Therapy is empirical and aimed at easing pain and modifying the inflammatory process. It includes nonsteroidal anti-inflammatory drugs (NSAIDs) as the first-line agents. Antibiotics, corticosteroids, disease-modifying anti-rheumatic drugs, biologicals targeting tumor necrosis factor alpha or interleukin-1, and bisphosphonates have all been used with variable success. Surgery is reserved to treat complications. Even though it is a disease with good long-term prognosis, its treatment remains a challenge and the results are known to be disappointing, especially with the skin component of the disease. Conclusion It is expected that these patients present at the time of diagnosis and the treatment should be as early, effective, and safe as possible in order to prevent osteoarticular progression and to limit the adverse events associated with pharmacological drugs.

Papillon-Lefevre syndrome (PLS) is a very rare syndrome of autosomal recessive inheritance characterized by progressive palmar-plantar keratoderma and early onset periodontitis, leading to premature loss of both primary and permanent dentitions and recurrent pyogenic infections. Patient Presented with a chief complaint of thickening of palms and soles extending on to knees and elbows.. On intraoral examination there is loss of both temporary and permanent teeth. Patient had recurrent pyogenic infections involving face and nose leading to nasal destruction. Histopathological examination of the specimen taken from the thickened skin was reported to be consistent with PLS1,2,3

Traumatic asphyxia is a rare syndrome caused by blunt thoracoabdominal trauma and characterized by cyanosis, edema, and subconjunctival and petechial hemorrhage on the face, neck, upper extremities, and the upper parts of the thorax. Traumatic asphyxia is usually diagnosed by history and inspection; however, the patient should be monitored more closely due to probable complications of thoracoabdominal injuries. Treatment is conservative, but the prognosis depends on the severity of the associated injuries. Herein we present a traumatic asphyxia due to an elevator accident in a 32-year-old male patient and discuss the diagnosis, treatment, and prognosis by reviewing the relevant literature.

Ovarian and paraovarian neoplasms are uncommon in children, mainly originating from germ cell tumors and, least frequently, epithelial tumors. There is an association between genital tract tumors and Proteus syndrome, a rare, sporadic, and progressive entity, characterized by a postnatal overgrowth in several tissues caused by a mosaic mutation in the AKT1 gene. We describe a 20-month-old asymptomatic infant with Proteus syndrome who developed an endometrioid paraovarian borderline cystic tumor. This is the youngest patient so far reported in the literature with this rare syndrome and an adnexal tumor of borderline malignancy. A total of nine patients have been described with female tract tumors and associated Proteus syndrome, which includes bilateral ovarian cystadenomas and other benign masses. A paraovarian neoplasm is extremely rare in children and could be considered a criterion for Proteus syndrome. Standardized staging and treatment of these tumors are not well established; however, most authors conclude that these neoplasms must be treated as their ovarian counterparts.

Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

Spontaneous intracranial hypotension is a rare syndrome characterized by orthostatic headache not associated with trauma or dural puncture. In most cases, it is caused by a spontaneous spinal cerebrospinal fluid leakage as demonstrated by neuroradiological studies. The standard of care consists of conservative treatment including bed rest, hydration, and administration of caffeine or glucocorticoids. When such conservative therapy fails, an epidural blood patch is recommended. In this report, we describe the treatment of 2 patients with spontaneous intracranial hypotension who failed conservative treatment and went on to have complete and sustained resolution of their symptoms after the administration of oral fludrocortisone.

Painful legs and moving toes (PLMT) syndrome is characterized by spontaneous movements of the digits and pain in one or both lower extremities. Of the reported cases, a majority of the patients was female, and the mean age of onset was 58 years. Only one pediatric case has been reported so far. Herein, we report the first adolescent case of PLMT in Korea. A 16-year-old girl complained of tingling pain in the left leg and involuntary movement of the ipsilateral great toe one month after a second untethering surgery. Three years ago, she had undergone untethering surgery to correct lipomeningomyelocele at the S2 level of the conus medullaris. At that time, she was diagnosed with polyradiculopathy at the left L5 level with axonal involvement. We diagnosed her with PLMT syndrome and prescribed gabapentin. Her symptoms diminished within a day. Complete relief from involuntary movement of the toe was achieved within four months. PLMT is a rare syndrome but it should be considered in the differential diagnosis of children and adolescents with limb pain and spontaneous movement in their toes.

The ocurrence of a traumatic arteriovenous fistula after arthroscopic surgery of TMJ represents an extremely rare event. Specifically, this uncommon complication has been described only in a few case reports. In this light, the most frequent symptoms showed by this disease are thrills, bruits, pulsatile tinnitus, and an expansible vascular mass. Importantly, the severity of these symptoms is also dependent on the vessels involved. With regard to the management, is important to note that the vessel ligation with surgery as well as vessel emolization with endovascular procedures have been shown to be effective in the treatment of these cases. In view of that, the present study describes a case of superficial temporal arteriovenous fistula that arose as a postoperative complication of a bilateral arthroscopic eminoplasty of TMJ. The aim of the present report is to characterize this rare syndrome with the goal of proposing suitable treatments. Key words:Arteriovenous fistula, arthroscopic surgery, eminoplasty of TMJ, temporal vessels.

Larsen syndrome, a congenital genetic disorder of collagen formation, is reported in a female newborn. The affected newborn has presented with dish like facies, multiple joint dislocations, gross hypotonia, cleft palate, spatulated thumb and fingers. Diagnosis is made on the basis of positive family history, remarkable clinical features and characteristics radiological findings. This rare syndrome is the first case report so far in Bangladesh.J Bangladesh Coll Phys Surg 2015; 33(1): 52-54

UNLABELLED Superior canal dehiscence is a rare syndrome. The symptoms consist of hearing loss, dizziness and autophonia. The patient can be cured with surgery. A 28 year old woman went to several doctors for several months due to diminished hearing, dizziness and autophonia. The symptoms got worse. A work-up led to the diagnosis of superior canal dehiscence in the left ear. She underwent surgery and her symptoms improved. A latency in diagnosis is expected as the syndrome is rare. It's important to think of superior canal dehiscence when patients complain of these symptoms. KEY WORDS superior canal dehiscence, autophonia, dizziness, hearing deficit. Correspondence: Bryndis Baldvinsdottir, bryndisbaldvins@gmail.com.

Hemiballismus–hemichorea is a rare complication of nonketotic hyperglycemia. Neuroimaging in patients with this syndrome show characteristic findings with hyperintensity in basal ganglia. We present case of a 65 year old female showing classic clinical and radiographic feature of this syndrome. We aim to illustrate the importance of prompt diagnosis of this disorder and treatment of hyperglycemia to achieve a favorable prognosis and prevent adverse outcomes.

Introduction. Chilaiditi's syndrome is a rare condition manifested by gastrointestinal symptoms, and radiologically verified by transposition of the large intestine loop. This radiological finding with no manifested symptoms is termed the Chilaiditi's sign. The aim of this case report was to remind the clinicians of the possibility of this rare syndrome, whose symptoms and signs may be misinterpreted and inadequately treated, with consequent diverse complications. Case report. We presented the theoretical facts and a patient in whom the diagnosis of Chilaiditi's syndrome was established incidentally, when hospitalized for an exacerbation of his chronic obstructive pulmonary disease. The Chilaiditi's sign was verified as an incidental finding on chest X-ray performed to evaluate the primary disease. Conclusion. Chilaiditi's syndrome is a benign condition which rarely requires surgery. Its clinical importance lies in adequate differential diagnostic approach and timely management of potentially serious complications.